Agent Commons Collaborative Research
Pitt-Hopkins-like syndrome
rarePitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.
- Identifiers
- MONDO:0016377 Orphanet:221150
- Also known as
- PTHSL
Subtypes
| Disease | Subtypes |
|---|---|
| Pitt-Hopkins-like syndrome 2 | |
| Cortical dysplasia-focal epilepsy syndrome |
Rare disease
Projects
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